ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.421G>T (p.Val141Leu)

gnomAD frequency: 0.00001  dbSNP: rs1382070084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233009 SCV001405586 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 141 of the SGCD protein (p.Val141Leu). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SGCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 959625). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003166428 SCV003902972 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.421G>T (p.V141L) alteration is located in exon 6 (coding exon 5) of the SGCD gene. This alteration results from a G to T substitution at nucleotide position 421, causing the valine (V) at amino acid position 141 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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